Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena.

abstract：:Recombinant factor VIII variants with overlapping deletions spanning the region Lys713-Ile1668 have been expressed in mammalian cells, and analysed for biological activity both in vitro and in vivo. Two distinct assay systems were used to measure the activity in vitro. The one-stage coagulation assay served to assess ...

journal_title：British journal of haematology

authors： Mertens K,Donath MJ,van Leen RW,de Keyzer-Nellen MJ,Verbeet MP,Klaasse Bos JM,Leyte A,van Mourik JA

更新日期：1993-09-01 00:00:00

abstract：:A number of disorders cause iron overload: some are of genetic origin, such as hereditary haemochromatosis, while others are acquired, for instance due to repeated transfusions. This article reviews the treatment options for hereditary haemochromatosis, with special attention to the use of erythrocytapheresis. In gene...

journal_title：British journal of haematology

authors： Rombout-Sestrienkova E,van Kraaij MG,Koek GH

更新日期：2016-12-01 00:00:00

abstract：:Monoclonal B-cell populations have been detected in the peripheral blood of apparently healthy individuals by flow cytometry. In 2005, the term monoclonal B-cell lymphocytosis (MBL) was proposed to describe these findings. MBL may be immunophenotypically similar to chronic lymphocytic leukaemia (CLL) and, like CLL, th...

journal_title：British journal of haematology

authors： Rachel JM,Zucker ML,Fox CM,Plapp FV,Menitove JE,Abbasi F,Marti GE

更新日期：2007-12-01 00:00:00

abstract：:Bone marrow culture in a patient with aplastic anaemia responding to anabolic steroid (methandienone) therapy, showed an unusually high degree of growth in unstimulated cultures. Growth in unstimulated cultures is due to factors with colony stimulating activity (CSA) released by monocyte macrophages in the bone marrow...

journal_title：British journal of haematology

authors： Francis GE,Berney JJ,Bateman SM,Hoffbrand AV

更新日期：1977-08-01 00:00:00

abstract：:The translocation t(1;19)(q23;p13)/der(19)t(1;19) is a risk stratifying aberration in childhood B-cell precursor acute lymphoblastic leukaemia (BCP ALL) in the Nordic countries. We have identified 47 children/adolescents with t(1;19)/der(19)t(1;19)-positive BCP ALL treated on two successive Nordic Society of Paediatri...

journal_title：British journal of haematology

authors： Andersen MK,Autio K,Barbany G,Borgström G,Cavelier L,Golovleva I,Heim S,Heinonen K,Hovland R,Johannsson JH,Johansson B,Kjeldsen E,Nordgren A,Palmqvist L,Forestier E

更新日期：2011-10-01 00:00:00

abstract：:Karyotypic analysis was performed in a total of 69 patients with well-characterized idiopathic myelofibrosis. Karyotypic abnormalities were detected in 46% of cases examined during the chronic phase (29/63); with three abnormalities, del(13q), del(20q) and partial trisomy 1q, accounting for 75% of all abnormalities at...

journal_title：British journal of haematology

authors： Reilly JT,Wilson G,Barnett D,Watmore A,Potter A

更新日期：1994-11-01 00:00:00

abstract：:The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type o...

journal_title：British journal of haematology

authors： Velati C,Sampietro M,Biassoni M,Cappellini MD,Wainscoat JS,Higgs DR,Fiorelli G

更新日期：1986-07-01 00:00:00

abstract：:A radioimmunoassay has been developed to measure platelet factor 4 (PF4) in biological fluids both in vitro and in vivo. The assay has been shown to be highly specific for PF4 and has a sensitivity of 0.08 ng/assay tube and 1.6 ng/ml of plasma. The preparation of plasma for the measurement of in vivo levels of PF4 req...

journal_title：British journal of haematology

authors： Chesterman CN,McGready JR,Doyle DJ,Morgan FJ

更新日期：1978-11-01 00:00:00

abstract：:We report a patient with congenital homozygous factor V deficiency in whom a large pseudotumour in the right upper leg was successfully surgically excised under continuous substitution with fresh-frozen plasma. ...

journal_title：British journal of haematology

authors： Tanis BC,van der Meer FJ,Bloem RM,Vlasveld LT

更新日期：1998-02-01 00:00:00

abstract：:To clarify the mechanisms underlying thrombocytosis secondary to infections, we longitudinally studied serum levels of thrombopoietin (TPO) and interleukin (IL)-6 in 15 infants and young children with prominent thrombocytosis (platelets >700 x 10(9)/l) following acute infections and 116 age-matched controls using an e...

journal_title：British journal of haematology

authors： Ishiguro A,Suzuki Y,Mito M,Shimbo T,Matsubara K,Kato T,Miyazaki H

更新日期：2002-03-01 00:00:00

abstract：:An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT). Preincubation of plasma with aPTT reagent caused shortening of the abnormal clotting time. Plasma prekallikrein (PK) activity and antigen were <5 u/dL. Molecular analysis showed a homozygous Ar...

journal_title：British journal of haematology

authors： Wynne Jones D,Russell G,Allford SL,Burdon K,Hawkins GA,Bowden DW,Minaee S,Mumford AD

更新日期：2004-10-01 00:00:00

abstract：:Calcium uptake into isolated membrane vesicles from two patients with a grey platelet syndrome has been investigated. An increase in calcium transport appears in both patients when compared to controls. Determination of the kinetic parameters of the calcium transport system gave similar apparent affinity for calcium a...

journal_title：British journal of haematology

authors： Enouf J,Lebret M,Bredoux R,Levy-Toledano S,Caen JP

更新日期：1987-04-01 00:00:00

abstract：:The polymerase chain reaction (PCR) assay was used to detect human parvovirus B19 DNA in 38 blood products and start plasma pools from five different manufacturers. The products examined were albumin, factor VIII, intravenous (i.v.) and intramuscular (i.m) immunoglobulin batches. The majority of pools from all the man...

journal_title：British journal of haematology

authors： Saldanha J,Minor P

更新日期：1996-06-01 00:00:00

abstract：:Langerhans cell histiocytosis (LCH), the most common histiocytic disorder, is characterized by the accumulation of CD1A(+) /CD207(+) mononuclear phagocytes within granulomatous lesions that can affect nearly all organ systems. Historically, LCH has been presumed to arise from transformed or pathologically activated ep...

journal_title：British journal of haematology

authors： Berres ML,Merad M,Allen CE

更新日期：2015-04-01 00:00:00

abstract：:Mantle cell lymphoma (MCL) is an aggressive B cell lymphoma, where survival has been remarkably improved by use of protocols including high dose cytarabine, rituximab and autologous stem cell transplantation, such as the Nordic MCL2/3 protocols. In 2008, a MCL international prognostic index (MIPI) was created to enabl...

journal_title：British journal of haematology

authors： Nordström L,Sernbo S,Eden P,Grønbaek K,Kolstad A,Räty R,Karjalainen ML,Geisler C,Ralfkiaer E,Sundström C,Laurell A,Delabie J,Ehinger M,Jerkeman M,Ek S

更新日期：2014-07-01 00:00:00

abstract：:Summary Previous findings of megakaryocytic hypogranulation and dysmegakaryocytopoietic features in acute myeloid leukaemia (AML) strongly indicate defects in platelet production. The bleeding tendency of these patients may result from dysregulated platelet production, resulting in thrombocytopenia as well as qualitat...

journal_title：British journal of haematology

authors： Leinoe EB,Hoffmann MH,Kjaersgaard E,Johnsen HE

更新日期：2004-10-01 00:00:00

abstract：:Erythrocyte sedimentation, viscosity, electrophroetic mobility, and osmotic fragility were measured in a study of the rheological behaviour of the erythrocyte in vitro. In comparison with physiological saline solution, a suspending medium containing a gamma2lambda2 monoclonal IgG from a patient with multiple myeloma c...

journal_title：British journal of haematology

authors： Rovel A,Vigneron C,Streiff F

更新日期：1979-04-01 00:00:00

abstract：:Chronic immune thrombocytopenia (ITP) is a haematological disorder in which patients predominantly develop skin and mucosal bleeding. Early studies suggested ITP was primarily due to immune-mediated peripheral platelet destruction. However, increasing evidence indicates that an additional component of this disorder is...

journal_title：British journal of haematology

authors： Nugent D,McMillan R,Nichol JL,Slichter SJ

更新日期：2009-09-01 00:00:00

abstract：:Childhood acute myeloid leukaemia (AML) is uncommon. Children with Fanconi anaemia (FA), however, have a very high risk of developing AML. FA is a rare inherited disease caused by mutations in at least 12 genes, of which Fanconi anaemia group G gene (FANCG) is one of the commonest. To address to what extent FANCG vari...

journal_title：British journal of haematology

authors： Meyer S,Barber LM,White DJ,Will AM,Birch JM,Kohler JA,Ersfeld K,Blom E,Joenje H,Eden TO,Malcolm Taylor G

更新日期：2006-05-01 00:00:00

abstract：:Long term outcomes and mutations in patients with mantle cell lymphoma (MCL) who discontinued ibrutinib have not been described. Using deep targeted next generation sequencing, we performed somatic mutation profiling from 15 MCL patients (including 5 patients with paired samples; before and after progression on ibruti...

journal_title：British journal of haematology

authors： Jain P,Kanagal-Shamanna R,Zhang S,Ahmed M,Ghorab A,Zhang L,Ok CY,Li S,Hagemeister F,Zeng D,Gong T,Chen W,Badillo M,Nomie K,Fayad L,Medeiros LJ,Neelapu S,Fowler N,Romaguera J,Champlin R,Wang L,Wang ML

更新日期：2018-11-01 00:00:00

abstract：:Over the past decades, a wealth of information has been reported about the pathogenic features of immune thrombocytopenia (ITP). To this day, however, it is unclear whether the immune abnormalities associated with ITP play causative roles in the disease or are secondary epiphenomena brought on by the inflammatory proc...

journal_title：British journal of haematology

authors： McKenzie CG,Guo L,Freedman J,Semple JW

更新日期：2013-10-01 00:00:00

abstract：:The presence of oestrogen receptors (ER) and type II oestrogen binding sites (type II EBS) have been investigated by a whole cell assay in seven cases of acute lymphoid leukaemia (ALL) and 16 cases of acute myeloid leukaemia (AML). ER were detected in 6/7 ALL patients with values ranging between 133 and 2268 sites/cel...

journal_title：British journal of haematology

authors： Larocca LM,Piantelli M,Leone G,Sica S,Teofili L,Panici PB,Scambia G,Mancuso S,Capelli A,Ranelletti FO

更新日期：1990-08-01 00:00:00

abstract：:We have previously shown that allogeneic bone marrow transplantation (BMT) with cryopreserved donor marrow cells can be used without prolonging the engraftment time or interfering with the reconstitution of haemopoiesis. In this report we extend our initial observations of the first 40 patients who underwent allogenei...

journal_title：British journal of haematology

authors： Stockschläder M,Hassan HT,Krog C,Krüger W,Löliger C,Horstman M,Altnöder M,Clausen J,Grimm J,Kabisch H,Zander A

更新日期：1997-02-01 00:00:00

abstract：:A bleeding tendency manifested by petechiae and ecchymoses is one of the most common causes for referral of patients to haematology clinics. Vessel wall pathology is not usually considered to be a cause for deranged haemostasis, although coexistence of increased capillary fragility and joint hypermobility have been re...

journal_title：British journal of haematology

authors： Kaplinsky C,Kenet G,Seligsohn U,Rechavi G

更新日期：1998-05-01 00:00:00

abstract：:Folate analogues were added to human bone marrow cells to determine their effect on deoxyuridine utilization in the deoxyuridine suppression test. Formyltetrahydrofolates fully corrected the impairment of dU utilization in pernicious anaemia marrows but tetrahydrofolate was relatively ineffective. All these analogues ...

journal_title：British journal of haematology

authors： Deacon R,Chanarin I,Perry J,Lumb M

更新日期：1980-12-01 00:00:00

abstract：:Paediatric B-cell non-Hodgkin lymphoma (B-NHL) compromises a heterogeneous group of histological entities of which Burkitt lymphoma is the most common. In resource-rich countries, the expected cure rate is in excess of 85% with application of risk-adapted short intensive chemotherapy. In recent years, large paediatric...

journal_title：British journal of haematology

authors： Giulino-Roth L,Goldman S

更新日期：2016-05-01 00:00:00

abstract：:Smouldering multiple myeloma (SMM) presents without MM defining symptoms. We aimed to identify patients with SMM with an 80% risk of progression within 2 years using only serum parameters. In total, 527 patients with SMM were included and divided into a training group (287 patients from the Czech Myeloma Group [CMG]) ...

journal_title：British journal of haematology

authors： Hájek R,Sandecka V,Špička I,Raab M,Goldschmidt H,Beck S,Minařík J,Pavlíček P,Radocha J,Heindorfer A,Jelínek T,Stejskal L,Brožová L,Ševčíková S,Straub J,Pika T,Pour L,Maisnar V,Seckinger A,Hose D

更新日期：2020-07-01 00:00:00

abstract：:It was hypothesized that contact between chronic lymphocytic leukaemia (CLL) B-cells and marrow stromal cells impact both cell types. To test this hypothesis, we utilized a long-term primary culture system from bone biopsies that reliably generates a mesenchymal stem cell (MSC). Co-culture of MSC with CLL B-cells prot...

journal_title：British journal of haematology

authors： Ding W,Nowakowski GS,Knox TR,Boysen JC,Maas ML,Schwager SM,Wu W,Wellik LE,Dietz AB,Ghosh AK,Secreto CR,Medina KL,Shanafelt TD,Zent CS,Call TG,Kay NE

更新日期：2009-11-01 00:00:00

abstract：:Lysosomal enzyme activities and isoenzyme profiles were measured in lymphoid and non-lymphoid leukaemic cells from childhood patients. High activities, especially of beta-hexosaminidase and alpha-mannosidase, were associated with leukaemic cells of myeloid or monocytic origin. Leukaemic cells from two children with ac...

journal_title：British journal of haematology

authors： Eden OB,Darbyshire P,Simpson RM,Besley GT,Moss S,Gentle T

更新日期：1985-01-01 00:00:00

abstract：:To clarify the clinical and biological significance of serum thymidine kinase (TK) in adult T-cell leukaemia (ATL) associated with human lymphotropic virus type-I (HTLV-I) and in acute myeloid leukaemia (AML), TK was measured in 52 patients with ATL (acute ATL, 35 patients; lymphoma ATL, two patients; chronic ATL, 12 ...

journal_title：British journal of haematology

authors： Sadamori N,Ichiba M,Mine M,Hakariya S,Hayashibara T,Itoyama T,Nakamura H,Tomonaga M,Hayashi K

更新日期：1995-05-01 00:00:00